serval:BIB_1071D8FBA335
Frequent MAGE mutations in human melanoma.
10.1371/journal.pone.0012773
000281864100016
20862285
Caballero
O.L.
author
Zhao
Q.
author
Rimoldi
D.
author
Stevenson
B.J.
author
Svobodová
S.
author
Devalle
S.
author
Röhrig
U.F.
author
Pagotto
A.
author
Michielin
O.
author
Speiser
D.
author
Wolchok
J.D.
author
Liu
C.
author
Pejovic
T.
author
Odunsi
K.
author
Brasseur
F.
author
Van den Eynde
B.J.
author
Old
L.J.
author
Lu
X.
author
Cebon
J.
author
Strausberg
R.L.
author
Simpson
A.J.
author
article
2010
PLoS One
1932-6203[electronic], 1932-6203[linking]
journal
5
9
e12773
Abstract: Background: Cancer/testis (CT) genes are expressed only in the germ line and certain tumors and are most frequently located on the X-chromosome (the CT-X genes). Amongst the best studied CT-X genes are those encoding several MAGE protein families. The function of MAGE proteins is not well understood, but several have been shown to potentially influence the tumorigenic phenotype.
Methodology/Principal Findings: We undertook a mutational analysis of coding regions of four CT-X MAGE genes, MAGEA1, MAGEA4, MAGEC1, MAGEC2 and the ubiquitously expressed MAGEE1 in human melanoma samples. We first examined cell lines established from tumors and matching blood samples from 27 melanoma patients. We found that melanoma cell lines from 37% of patients contained at least one mutated MAGE gene. The frequency of mutations in the coding regions of individual MAGE genes varied from 3.7% for MAGEA1 and MAGEA4 to 14.8% for MAGEC2. We also examined 111 fresh melanoma samples collected from 86 patients. In this case, samples from 32% of the patients exhibited mutations in one or more MAGE genes with the frequency of mutations in individual MAGE genes ranging from 6% in MAGEA1 to 16% in MAGEC1.
Significance: These results demonstrate for the first time that the MAGE gene family is frequently mutated in melanoma.
eng
60_published
true
University of Lausanne
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